Vitamin D Receptor and Its Influence on Multiple Sclerosis Risk and Severity: From Gene Polymorphisms to Protein Expression
Cristiana Pistono,
Cecilia Osera,
Maria Cristina Monti,
Chiara Boiocchi,
Giulia Mallucci,
Mariaclara Cuccia,
Cristina Montomoli,
Roberto Bergamaschi,
Alessia Pascale
Affiliations
Cristiana Pistono
Laboratory of Immunogenetics, Department of Biology & Biotechnology “L. Spallanzani”, University of Pavia, 27100 Pavia, Italy
Cecilia Osera
Department of Drug Sciences, Section of Pharmacology, University of Pavia, 27100 Pavia, Italy
Maria Cristina Monti
Unit of Biostatistics and Clinical Epidemiology, Department of Public Health Experimental and Forensic Medicine, University of Pavia, 27100 Pavia, Italy
Chiara Boiocchi
Inter-Department Multiple Sclerosis Research Centre, National Neurological Institute “C. Mondino”, 27100 Pavia, Italy
Giulia Mallucci
Inter-Department Multiple Sclerosis Research Centre, National Neurological Institute “C. Mondino”, 27100 Pavia, Italy
Mariaclara Cuccia
Laboratory of Immunogenetics, Department of Biology & Biotechnology “L. Spallanzani”, University of Pavia, 27100 Pavia, Italy
Cristina Montomoli
Unit of Biostatistics and Clinical Epidemiology, Department of Public Health Experimental and Forensic Medicine, University of Pavia, 27100 Pavia, Italy
Roberto Bergamaschi
Inter-Department Multiple Sclerosis Research Centre, National Neurological Institute “C. Mondino”, 27100 Pavia, Italy
Alessia Pascale
Department of Drug Sciences, Section of Pharmacology, University of Pavia, 27100 Pavia, Italy
Multiple sclerosis (MS) is a multifactorial neurodegenerative disease. Low levels of vitamin D are a risk factor for MS and alterations in the vitamin D receptor (VDR) might be a risk factor as well. This study aimed to evaluate whether the VDR rs731236 (Taq-I) and rs4334089 (HpyCH4V) gene polymorphisms and VDR protein expression are associated with MS risk and severity. Vitamin D plasma levels were analyzed in a group of patients. Additional analyses of VDR protein expression and vitamin D levels of patients with different forms of MS (MSSS VDR protein contents do not change between MS patients and healthy controls and between patients with different MS severity, vitamin D levels decrease in parallel with an increase in MSSS.
